hrp0097p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Heterozygous mutations in SETD5 are associated with bone fragility

Blaschitz Alexandra , Aischwarya Rao Avula , Castiglioni Claudia , Balasubramanian Meena

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

hrp0097p2-156 | Adrenals and HPA Axis | ESPE2023

Aldosterone deficiency and resistance: The different faces of renal salt loss

Laurer Elisabeth , Tischlinger Katharina , Montero-Lopez Rodrigo , Blaschitz Alexandra , Wimleitner Marlene , Hoertenhuber Thomas , Hoegler Wolfgang

Introduction: Heritable conditions causing aldosterone deficiency (hypoaldosteronism) or target-organ resistance (pseudohypoaldosteronism, PHA) can lead to life-threatening salt-wasting crises in early life. Prompt evaluation and correct interpretation of aldosterone and renin are crucial to guide differential diagnosis and further testing. Here we report on the similarities and differences of two neonates presenting with salt-wasting: Patient (P1) due to PHA ...

hrp0097p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Effects of romosozumab on bone ultrastructure and density in a patient with primary osteoporosis caused by a novel heterozygous WNT1 mutation

Montero-Lopez Rodrigo , Blaschitz Alexandra , Tischlinger Katharina , Wimleitner Marlene , Hörtenhuber Thomas , Klinger Markus , Cejka Daniel , Högler Wolfgang

Background: Genetic defects in the Wnt signaling pathway lead to early-onset osteoporosis (EOOP). Romosozumab is a monoclonal antibody against sclerostin, an inhibitor of the Wnt/ß-catenin pathway. Romosozumab has shown great efficacy in adult osteoporosis, however its effect in patients with Wnt-related EOOP is unknown. In monoallelic loss-of-function WNT1 mutations, romosozumab could potentially stimulate the defective Wnt signaling pathway an...

hrp0097lb2 | Late Breaking | ESPE2023

Denosumab in the treatment of paediatric hypercalcaemia

Tischlinger Katharina , Blaschitz Alexandra , Hörtenhuber Thomas , Montero-Lopez Rodrigo , Wimleitner Marlene , Uday Suma , Crane Janet , Högler Wolfgang

Background: Hypercalcaemia has various etiologies and treatment is often challenging. Therapeutic options include aggressive fluid management, loop diuretics and antiresorptive drugs. Since both hypercalcaemia and bisphosphonates can cause acute kidney injury (AKI), bisphosphonates are not recommended in patients with renal impairment. Denosumab, an antiresorptive human monoclonal antibody, is not associated with AKI and offers a temporary treatment option. Ho...